K38E (p.Lys38Glu) variant of TBK1 (Q9UHD2)
K38E (p.Lys38Glu) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- gnomAD 12-64460213-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available